Inclusion seems to be the trend. Now NORD (The National Organization of Rare Diseases) and DIA (The Drug Information Association) are sponsoring their first meeting together and once again the focus is on the same kind of collaboration. The meeting is in Washington D.C. from October 11 through 13 and the same group of stakeholders is being brought together. There will even be a special track of sessions for patient organization members. This track will focus on everything from the nuts and bolts of running an organization to the kind of topics that are of special interest to only the rare disease community like off-label use of medications. In addition to the opportunity to hear from stars in the field from Francis Collins, NIH Director, to John Crowley, Chairman and CEO of Amicus Therapeutics and Patient Advocate Parent Extraordinaire played by Harrison Ford in the movie “Extraordinary Measures,” those able to attend will study crucial topics like the drug approval process and how to raise funds from the government. For more information about the conference you can go to the NORD website (rarediseases.org).

If you’re closer to Seoul, Korea, there’s another meeting of interest to consider attending. The World Orphan Drug Congress will meet from September 14-16 and the focus is rare disease drug development. This congress is being sponsored by Asian rare disease patient organizations in addition to pharmaceutical companies. The founder and director of China-Dolls Center for Rare Disorders in China, Yoyo Wang is one of the featured speakers! You can register for the Seoul conference by going to www.terrapinn.com/orphandrugasia.

While we’re on the topic of important conferences, please save the date for the 2012 Congenital Hyperinsulinism International Family Conference March 16-18 in Philadelphia.

For years people with diabetes have been able to purchase BSL supplies at subsidized prices in Australia. This type of support from the Australian government has been wonderful. Standard pricing for BSL supplies is very expensive. In some cases people go without testing because the cost of supplies is so high. Lack of testing can lead to poor control of blood sugar levels, which in turn, can cause serious medical complications.

In the past, children with HI were able to receive the subsidy due to their need to monitor BSL’s as frequently as people with diabetes. However, recently, applications from HI patients were rejected causing patients to be ineligible for the subsidy.

Thanks to Margaret’s excellent advocacy work, the policy has been clarified. All Australian children diagnosed with congenital hyperinsulinism (and other conditions which have hypoglycemia as part of the condition such as Kabuki syndrome and cystic fibrosis) by their endocrinologist are eligible for the subsidy. This includes children with HI using insulin pumps to deliver octreotide. All families who have been denied are encouraged to apply again.

This initiative is made possible through the National Diabetes Services Scheme (NDSS) administered by Diabetes Australia (DA). The NDSS, in addition to providing support and information to people with diabetes, delivers diabetes-related products at subsidized prices.

For further information about this contact CHI.

At the meeting members of the CHI Scientific Advisory Group including Dr. Charles Stanley, Dr. Khalid Hussain, and Dr. Paul Thornton gave presentations on the nature of the disorder, their centers, and current research. There were also updates from Dr. Diva De Leon-Crutchlow, Dr. David Zangen, and Dr. Liliana Burgos. HI patients, parents, and doctors had an opportunity to pose questions to leading experts in the field.

There was also an interesting exchange of ideas between physicians and HI family members. Topics of discussion included research and treatment news, diagnosis, an explanation of the different types of HI, genetics, surgical and medical treatment options, the occurrence rate of diabetes, and the transition to adult care. Young adult patients also addressed the group sharing their experiences of growing up with HI. Parents of HI children also shared their stories of diagnosis and the reality of raising a child with the condition.

The meeting was very international in scope. There were physicians from Israel, England, Canada, Panama, Chile, and Columbia, in addition to physicians from around the U.S. It was fascinating to learn about what is happening at centers around the world. There was also a wonderful dialogue between endocrinologists and families local to the Boston area and those from more distant places.

Matt Hopkins, president of CHI and Julie Raskin, Executive Director, shared information on CHI initiatives including the new CHI project to raise funds for research, the CHI Champion Program, and the CHI International Crisis Program. In addition to being extremely informative, the evening was very enjoyable and there was ample time for informal discussion. CHI is so thankful for all the interest in the evening and the enormous effort put forth by so many to attend the evening.

Dinner meeting participants will have an opportunity to speak informally on a range of topics with members of the CHI Scientific Advisory Group comprised of leading world specialists in the field of HI. Dr. Paul Thornton from Cook Children’s in Texas, Dr. Khalid Hussain from Great Ormond Street in London, and Drs. Charles Stanley and Diva De Leon-Crutchlow from the Children’s Hospital of Philadelphia will be among the physicians attending. Physicians and researchers will share information about their projects, research and practice.

This meeting is intended for adults and young adults with HI and HI parents. There is a great need for HI patients and parents of children with HI to be in a direct exchange with the physicians who treat the disorder in an educational setting. HI requires vigilant care. Left untreated HI can lead to poor neurological outcomes including mental retardation, learning disabilities, low vision or blindness, ADHD, and a host of other issues. It is paramount that those with HI and their caregivers receive up-to-date information on how best to care for the disease to optimize development and reduce poor neurological outcomes.

Physicians also learn a tremendous amount from HI patients, parents and caregivers. Exchanges between physicians, caregivers and patients in programs such as this one provide physicians with the kind of information necessary to propel their research further and improve their medical practice.

New ideas and practices are often generated when HI physicians and patients get together. The Endocrine Society Meeting in Boston is a wonderful opportunity to bring the HI community together for collaboration.

Seaport Dinner Invitation

The Genetic Diseases of Children Conference, which is taking place in New York right now, is just such an event. Yesterday, I had the opportunity to attend the conference and was desperate to get to know all the speakers and conference attendees because they all have stories and information that is so important for the entire rare disease community.

This is truly an amazing conference because it brings together in large numbers patient organization advocates, scientists and biotech experts, government officials, physicians, and even patient-oriented social media entrepreneurs. It is a chance for a very rare kind of collaboration where the patient’s experience and well-being is really the central concern.

The luminaries in these fields are at the conference, sharing, teaching and learning. Sharon Terry, parent of two children with a genetic disorder and founder and CEO of the Genetic Alliance is both a moderator and a speaker, stressing the importance of groups working together across diseases to increase our power as one community, and as a way of exploring novel treatments for particular disorders. Pat Furlong, the mother of two sons who lost their battle to Duchenne Muscular Dystrophy and CEO of Parent Project Muscular Dystrophy, and recently the subject of a New Yorker profile, was the moderator of an excellent session on “The Impact of Diagnosis from Birth to Adulthood.” The New Yorker article really captured her real life presence, with all its doggedness and invincibility.

James Lupski, a giant in the field of Genomics, was a very illuminating panelist on the subject of sequencing the human genome and the promise of therapeutic benefits from this kind of work. He was able to convey the power of these approaches to both the lay person while keeping scientists in the audience interested. James Heywood, who was inspired to start the superb and innovative website, PatientsLikeMe.org, after his brother succumbed to ALS, was an impassioned speaker. It was a great pleasure to meet him as he is really a pioneer in the field of data sharing among patients. Jamie has brought information sharing to a new level and has managed to convince many of the validity and necessity of this work. There are also extremely focused parents of very sick children just embarking on this journey, without a moment to spare, rabidly networking, searching for better care options for children.

For all of us searching for a better tomorrow, the Genetic Diseases of Children Conference contains a universe of resources. I’m attaching the link to the Conference website so you can all explore the agenda and learn about the speakers. I am hoping that this meeting, the first of its kind sponsored by the State of New York Department of Health, becomes a regular event. The URL for the conference is http://www.wadsworth.org/events/genetics/. While you’re hear check out our gorgeous Congenital Hyperinusulinism International T-shirts, available in three languages and many styles and sizes at: http://www.cafepress.com/Congenitalhyperins

Isabel Calderone has created versions of the shirt in French and Spanish, which is fantastic because Rare Disease Day is an international event and we can help spread global awareness of HI. Don’t delay. Order today so you have your shirts for 2/28.

I had the pleasure of visiting the National Organization of Rare Disorders (NORD) earlier this week.  NORD is a fantastic umbrella organization for rare disorders.  The folks at NORD are passionate about making life better for people with rare diseases and they are the U.S. organizers of Rare Disease Day.  CHI and many other patient organizations have joined with them to make this February 28^th a day to be remembered.

In honor of the day, CHI is launching the Care about Rare Campaign and we want all of you to join us in this endeavor.  Folks might ask, why Care about Rare? Why care about a disease that affects so few people?  Well, the answer is obvious.  Each and every life is precious and needs to be lived to the fullest.  Those born with a rare disease need answers and cures just like those of us who suffer from common ailments.  “Sorry, there aren’t funds to develop treatments for that rare disorder” should never be heard.

We live in a society that prizes many things rare:  rare beauty, rare talent, rare intelligence, rare jewels, even rare truffles.  So why not rare diseases?

Please take a moment to think about what you can do to raise awareness about HI and rare diseases in honor of this day?  Look at the list below or write or call me to brainstorm about how you can be a part of this.  I can be reached at jraskin@congenitalhi.org or 973-544-8372

• Hold a Care About Rare Event on February 28^th in honor of the day.  It can be a fundraising or raising awareness event.   Call or email me for help in planning your event.

• Share your stories with us.  CHI will publish them on our blog under the heading  HIstories.   Don’t worry about length.  Just a paragraph or two is fine or more also works.   Send us a high-resolution picture to go along with your story, if you like.

• CHI has already become a Rare Disease Day partner and is representing all of your interests.  As individuals, you can also become a Rare Disease Day Ambassador.  You can go to the NORD website to do so (rarediseases.org).

• Make a 30-90 second video about your experience with HI.  Send it to the rarediseaseday.us website for inclusion in their video library.  We’ll also put it up on the CHI website.

• The new Congress has just convened.  Don’t waste a second.  Contact your representative and request that he/she join the Rare and Neglected Diseases Congressional Caucus.  You can check the NORD website to see if your representative is already on it (very few are).  The Caucus helps focus attention on rare diseases.

Together we can make the world Care about Rare!

I am writing to tell you about an excellent opportunity to spread awareness about HI and to share your opinions about the importance of information sharing for taking care of yourself or a child with HI. The attached electronic survey which is being conducted by NORD, the National Organization of Rare Diseases, an umbrella organization that advocates for and supports individuals living with rare diseases and the Pew Research Center, a media think tank, will be used as an important source for a research paper on how people with rare diseases gain and share information.

There are many reasons to take part in this study. One good reason is to raise awareness at NORD and Pew about HI. These are both powerful organizations and the more they know about HI, the more likely it is that HI will receive media attention. You never know, the study could be quoted in newspapers with large circulations, on TV news, or on the Internet, and HI could be part of the quoted material.

I took the electronic survey and found it very interesting. One thing that came to mind for me as I took the survey was what an amazing source of information the online HI community has been for me since I started participating in 1999 in listserv groups, websites, and now Facebook.

The electronic survey cover page will ask for a user code. You can use 1111. Please make sure to answer the questions all in one sitting and to do so within the next couple of weeks.

This is the link to the questionaire:

http://www.psra.com/nordsurvey.html

The following is an explanatory letter from NORD about the study. This letter was sent to CHI, which is a member of NORD.

Thanks so much for taking the time to fill out the electronic survey. Your experiences and opinions matter!

Julie Raskin

Dear NORD Members,

We are writing to ask you to join NORD in a very important project to raise awareness of rare diseases and the challenges encountered by patients and their families.
NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources.

We are asking you to tell your members about this study and to encourage them to complete the short survey to ensure that as many rare disease organizations as possible are represented in this survey.

You are probably familiar with the Pew Internet and American Life Project, which has published several widely publicized studies of how Americans use the Internet. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.
It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.

This project is being done in conjunction with Rare Disease Day, and the results will be released to the press—and to all of you—in February, just before Rare Disease Day. Because Rare Disease Day is all about education and raising awareness, NORD is very happy to partner with Pew in this project designed to educate all Americans about specific rare diseases and the challenges associated with having a rare disease.

Please post the link to the survey on your website or distribute it in other ways to your members. The survey will be available for just three weeks, so it is important to distribute this information as soon as possible. Please also feel free to post the link on Facebook, Twitter or any other communications channels that you use. NORD will be doing the same.

We appreciate your help in this project and—even more—your support for Rare Disease Day and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.

Link to online survey: http://www.psra.com/nordsurvey.html

Sincerely,

Peter L. Saltonstall
NORD President and CEO